ARID1B AT-rich interaction domain 1B
Gene info
Synonyms
KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5
Previous symbol
None
External ID
HGNC: 18040
Entrez Gene: 57492
Ensembl: ENSG00000049618
UCSC: uc003qqp.4
OMIM:
614556
UniProtKB:
Q8NFD5
Disease info
Disease
CHD Phenotype
- Atrial septal defect
- Patent foramen ovale
- Atrioventricular septal defect
Extra Cardiac Phenotype
None
Incomplete penetrance
Unknown
Variable expressivity
Unknown
Animal model
Mouse study
MGI: no cardiovascular defect recorded
MGI ID
Variant info
Clinvar
Selected variant
The Clinvar variants presented in the below IGV track were selected based on the following criteria.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for ARID1B: BED file
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Selected References
- Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., … Altmüller, J. (2013). A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Human Molecular Genetics, 22(25), 5121–5135. DOI:10.1093/hmg/ddt366
- Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., … Reis, A. (2012). Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability. The American Journal of Human Genetics, 90(3), 565–572. DOI:10.1016/j.ajhg.2012.02.007 PMID:22405089
- Nagamani, S. C. S., Erez, A., Eng, C., Ou, Z., Chinault, C., Workman, L., … Cheung, S. W. (2008). Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. European Journal of Human Genetics, 17(5), 573–581. DOI:10.1038/ejhg.2008.220 PMID:19034313
- Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., … Linssen, M. M. L. (2013). Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients. Human Mutation, 34(11), 1519–1528. DOI:10.1002/humu.22394